| PMID | Chromosome region | Description | Disease | Classification |
| 10084604 | 9q34 | 9q34 | adrenocortical Tumors | Endocrine |
| 10388017 | Xq28 | Xq28 | aplastic anemia | Hematological |
| 10388017 | Xq28 | Xq28 | Fanconi's anemia | Hematological |
| 10388017 | Xq28 | Xq28 | leukemia | Hematological |
| 10388017 | Xq28 | Xq28 | Dyskeratosis congenita | Dermatological |
| 10388017 | Xq28 | Xq28 | Shwachman-Diamond syndrome | Related syndrome |
| 10388017 | Xq28 | Xq28 | Diamond-Blackfan anemia | Hematological |
| 10696121 | 1q | 1q | Hepatoblastoma | Gastrointestinal |
| 10738297 | 11p15 | 11p15 | adrenocortical Tumors | Endocrine |
| 10738297 | 11p15 | 11p15 | Rhabdomyosarcoma | muscular |
| 10738297 | 11p15 | 11p15 | Hepatoblastoma | Gastrointestinal |
| 10861454 | 1p36 | 1p36 | astrocytoma | Neurological |
| 10861454 | 1p36 | 1p36 | clivus chordoma | unclassified |
| 11793444 | 8q12 | 8q12 deletions | acute lymphoblastic leukemia | Hematological |
| 11955607 | 1p | deletion of chromosome arm 1p, gain of chromosome 17 | neuroblastoma | Neurological |
| 11955607 | chr17 | deletion of chromosome arm 1p, gain of chromosome 17 | neuroblastoma | Neurological |
| 16496407 | 22q | 22q | Wilms' Tumor | Renal |
| 19684604 | 7p12.2 | 7p12.2 | acute lymphoblastic leukemia | Hematological |
| 19684604 | 10q21.2 | 10q21.2 | acute lymphoblastic leukemia | Hematological |
| 19684604 | 14q11.2 | 14q11.2 | acute lymphoblastic leukemia | Hematological |
| 19789318 | 2q37 | Loss of heterozygosity at 2q37 | Wilms' Tumor | Renal |
| 22269667 | 16p13.3 | microdeletion of 16 p13.3 | Rubinstein-Taybi syndrome | Related syndrome |
| 22421935 | 13q14 | 13q14 | Retinoblastoma | Ophthalmology |
| 22594376 | 1p | 1p deletion. 19q deletion, MGMT gene promoter methylation, EGFR amplifications or polysomy | Glioneuronal Tumor | Neurological |
| 22594376 | 19q | 1p deletion. 19q deletion, MGMT gene promoter methylation, EGFR amplifications or polysomy | Glioneuronal Tumor | Neurological |
| 22924820 | t(11;13) (q21;q14.2) | t(11;13) (q21;q14.2) | Retinoblastoma | Ophthalmology |
| 2576946 | 1p32. | 1p32. | Medullary thyroid Carcinoma | Endocrine |
| 2645266 | 5q | located on chromosomes 5q, 17p, and 18q | colorectal cancer | Gastrointestinal |
| 2645266 | 17p | located on chromosomes 5q, 17p, and 18q | colorectal cancer | Gastrointestinal |
| 2645266 | 18q | located on chromosomes 5q, 17p, and 18q | colorectal cancer | Gastrointestinal |
| 7139592 | 1p | 1p | neuroblastoma | Neurological |
| 7447607 | 13q | 13q | Retinoblastoma | Ophthalmology |
| 7541647 | 11p15.5 | 11p15.5 | Hepatoblastoma | Gastrointestinal |
| 8396224 | 17p | distal 17p | neuroectodermal Tumor | Neurological |
| 8827078 | 11p15 | 11p15 | Wilms' Tumor | Renal |
| 8827078 | 11p15 | 11p15 | Beckwith-Wiedemann syndrome | Related syndrome |
| 8827079 | 11p15 | 11p15 | Beckwith-Wiedemann syndrome | Related syndrome |
| 9115964 | 17p13 | 17p13 | medulloblastoma | Neurological |
| 9815707 | 17p | 17p deletions | medulloblastoma | Neurological |